ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4658del (p.Leu1553fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4658del (p.Leu1553fs)
Variation ID: 839374 Accession: VCV000839374.11
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074348 (GRCh38) [ NCBI UCSC ] 17: 41226365 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 15, 2020 May 1, 2024 Feb 11, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4658del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu1553fs frameshift NM_001407571.1:c.4444delT NP_001394500.1:p.Leu1482Cysfs frameshift NM_001407581.1:c.4723delT NP_001394510.1:p.Leu1575Cysfs frameshift NM_001407582.1:c.4723delT NP_001394511.1:p.Leu1575Cysfs frameshift NM_001407583.1:c.4720delT NP_001394512.1:p.Leu1574Cysfs frameshift NM_001407585.1:c.4720delT NP_001394514.1:p.Leu1574Cysfs frameshift NM_001407587.1:c.4720delT NP_001394516.1:p.Leu1574Cysfs frameshift NM_001407590.1:c.4717delT NP_001394519.1:p.Leu1573Cysfs frameshift NM_001407591.1:c.4717delT NP_001394520.1:p.Leu1573Cysfs frameshift NM_001407593.1:c.4657delT NP_001394522.1:p.Leu1553Cysfs frameshift NM_001407594.1:c.4657delT NP_001394523.1:p.Leu1553Cysfs frameshift NM_001407596.1:c.4657delT NP_001394525.1:p.Leu1553Cysfs frameshift NM_001407597.1:c.4657delT NP_001394526.1:p.Leu1553Cysfs frameshift NM_001407598.1:c.4657delT NP_001394527.1:p.Leu1553Cysfs frameshift NM_001407602.1:c.4657delT NP_001394531.1:p.Leu1553Cysfs frameshift NM_001407603.1:c.4657delT NP_001394532.1:p.Leu1553Cysfs frameshift NM_001407605.1:c.4657delT NP_001394534.1:p.Leu1553Cysfs frameshift NM_001407610.1:c.4654delT NP_001394539.1:p.Leu1552Cysfs frameshift NM_001407611.1:c.4654delT NP_001394540.1:p.Leu1552Cysfs frameshift NM_001407612.1:c.4654delT NP_001394541.1:p.Leu1552Cysfs frameshift NM_001407613.1:c.4654delT NP_001394542.1:p.Leu1552Cysfs frameshift NM_001407614.1:c.4654delT NP_001394543.1:p.Leu1552Cysfs frameshift NM_001407615.1:c.4654delT NP_001394544.1:p.Leu1552Cysfs frameshift NM_001407616.1:c.4654delT NP_001394545.1:p.Leu1552Cysfs frameshift NM_001407617.1:c.4654delT NP_001394546.1:p.Leu1552Cysfs frameshift NM_001407618.1:c.4654delT NP_001394547.1:p.Leu1552Cysfs frameshift NM_001407619.1:c.4654delT NP_001394548.1:p.Leu1552Cysfs frameshift NM_001407620.1:c.4654delT NP_001394549.1:p.Leu1552Cysfs frameshift NM_001407621.1:c.4654delT NP_001394550.1:p.Leu1552Cysfs frameshift NM_001407622.1:c.4654delT NP_001394551.1:p.Leu1552Cysfs frameshift NM_001407623.1:c.4654delT NP_001394552.1:p.Leu1552Cysfs frameshift NM_001407624.1:c.4654delT NP_001394553.1:p.Leu1552Cysfs frameshift NM_001407625.1:c.4654delT NP_001394554.1:p.Leu1552Cysfs frameshift NM_001407626.1:c.4654delT NP_001394555.1:p.Leu1552Cysfs frameshift NM_001407627.1:c.4651delT NP_001394556.1:p.Leu1551Cysfs frameshift NM_001407628.1:c.4651delT NP_001394557.1:p.Leu1551Cysfs frameshift NM_001407629.1:c.4651delT NP_001394558.1:p.Leu1551Cysfs frameshift NM_001407630.1:c.4651delT NP_001394559.1:p.Leu1551Cysfs frameshift NM_001407631.1:c.4651delT NP_001394560.1:p.Leu1551Cysfs frameshift NM_001407632.1:c.4651delT NP_001394561.1:p.Leu1551Cysfs frameshift NM_001407633.1:c.4651delT NP_001394562.1:p.Leu1551Cysfs frameshift NM_001407634.1:c.4651delT NP_001394563.1:p.Leu1551Cysfs frameshift NM_001407635.1:c.4651delT NP_001394564.1:p.Leu1551Cysfs frameshift NM_001407636.1:c.4651delT NP_001394565.1:p.Leu1551Cysfs frameshift NM_001407637.1:c.4651delT NP_001394566.1:p.Leu1551Cysfs frameshift NM_001407638.1:c.4651delT NP_001394567.1:p.Leu1551Cysfs frameshift NM_001407639.1:c.4651delT NP_001394568.1:p.Leu1551Cysfs frameshift NM_001407640.1:c.4651delT NP_001394569.1:p.Leu1551Cysfs frameshift NM_001407641.1:c.4651delT NP_001394570.1:p.Leu1551Cysfs frameshift NM_001407642.1:c.4651delT NP_001394571.1:p.Leu1551Cysfs frameshift NM_001407644.1:c.4648delT NP_001394573.1:p.Leu1550Cysfs frameshift NM_001407645.1:c.4648delT NP_001394574.1:p.Leu1550Cysfs frameshift NM_001407646.1:c.4645delT NP_001394575.1:p.Leu1549Cysfs frameshift NM_001407647.1:c.4642delT NP_001394576.1:p.Leu1548Cysfs frameshift NM_001407648.1:c.4600delT NP_001394577.1:p.Leu1534Cysfs frameshift NM_001407649.1:c.4597delT NP_001394578.1:p.Leu1533Cysfs frameshift NM_001407652.1:c.4657delT NP_001394581.1:p.Leu1553Cysfs frameshift NM_001407653.1:c.4579delT NP_001394582.1:p.Leu1527Cysfs frameshift NM_001407654.1:c.4579delT NP_001394583.1:p.Leu1527Cysfs frameshift NM_001407655.1:c.4579delT NP_001394584.1:p.Leu1527Cysfs frameshift NM_001407656.1:c.4576delT NP_001394585.1:p.Leu1526Cysfs frameshift NM_001407657.1:c.4576delT NP_001394586.1:p.Leu1526Cysfs frameshift NM_001407658.1:c.4576delT NP_001394587.1:p.Leu1526Cysfs frameshift NM_001407659.1:c.4573delT NP_001394588.1:p.Leu1525Cysfs frameshift NM_001407660.1:c.4573delT NP_001394589.1:p.Leu1525Cysfs frameshift NM_001407661.1:c.4573delT NP_001394590.1:p.Leu1525Cysfs frameshift NM_001407662.1:c.4573delT NP_001394591.1:p.Leu1525Cysfs frameshift NM_001407663.1:c.4573delT NP_001394592.1:p.Leu1525Cysfs frameshift NM_001407664.1:c.4534delT NP_001394593.1:p.Leu1512Cysfs frameshift NM_001407665.1:c.4534delT NP_001394594.1:p.Leu1512Cysfs frameshift NM_001407666.1:c.4534delT NP_001394595.1:p.Leu1512Cysfs frameshift NM_001407667.1:c.4534delT NP_001394596.1:p.Leu1512Cysfs frameshift NM_001407668.1:c.4534delT NP_001394597.1:p.Leu1512Cysfs frameshift NM_001407669.1:c.4534delT NP_001394598.1:p.Leu1512Cysfs frameshift NM_001407670.1:c.4531delT NP_001394599.1:p.Leu1511Cysfs frameshift NM_001407671.1:c.4531delT NP_001394600.1:p.Leu1511Cysfs frameshift NM_001407672.1:c.4531delT NP_001394601.1:p.Leu1511Cysfs frameshift NM_001407673.1:c.4531delT NP_001394602.1:p.Leu1511Cysfs frameshift NM_001407674.1:c.4531delT NP_001394603.1:p.Leu1511Cysfs frameshift NM_001407675.1:c.4531delT NP_001394604.1:p.Leu1511Cysfs frameshift NM_001407676.1:c.4531delT NP_001394605.1:p.Leu1511Cysfs frameshift NM_001407677.1:c.4531delT NP_001394606.1:p.Leu1511Cysfs frameshift NM_001407678.1:c.4531delT NP_001394607.1:p.Leu1511Cysfs frameshift NM_001407679.1:c.4531delT NP_001394608.1:p.Leu1511Cysfs frameshift NM_001407680.1:c.4531delT NP_001394609.1:p.Leu1511Cysfs frameshift NM_001407681.1:c.4528delT NP_001394610.1:p.Leu1510Cysfs frameshift NM_001407682.1:c.4528delT NP_001394611.1:p.Leu1510Cysfs frameshift NM_001407683.1:c.4528delT NP_001394612.1:p.Leu1510Cysfs frameshift NM_001407684.1:c.4657delT NP_001394613.1:p.Leu1553Cysfs frameshift NM_001407685.1:c.4528delT NP_001394614.1:p.Leu1510Cysfs frameshift NM_001407686.1:c.4528delT NP_001394615.1:p.Leu1510Cysfs frameshift NM_001407687.1:c.4528delT NP_001394616.1:p.Leu1510Cysfs frameshift NM_001407688.1:c.4528delT NP_001394617.1:p.Leu1510Cysfs frameshift NM_001407689.1:c.4528delT NP_001394618.1:p.Leu1510Cysfs frameshift NM_001407690.1:c.4525delT NP_001394619.1:p.Leu1509Cysfs frameshift NM_001407691.1:c.4525delT NP_001394620.1:p.Leu1509Cysfs frameshift NM_001407692.1:c.4516delT NP_001394621.1:p.Leu1506Cysfs frameshift NM_001407694.1:c.4516delT NP_001394623.1:p.Leu1506Cysfs frameshift NM_001407695.1:c.4516delT NP_001394624.1:p.Leu1506Cysfs frameshift NM_001407696.1:c.4516delT NP_001394625.1:p.Leu1506Cysfs frameshift NM_001407697.1:c.4516delT NP_001394626.1:p.Leu1506Cysfs frameshift NM_001407698.1:c.4516delT NP_001394627.1:p.Leu1506Cysfs frameshift NM_001407724.1:c.4516delT NP_001394653.1:p.Leu1506Cysfs frameshift NM_001407725.1:c.4516delT NP_001394654.1:p.Leu1506Cysfs frameshift NM_001407726.1:c.4516delT NP_001394655.1:p.Leu1506Cysfs frameshift NM_001407727.1:c.4516delT NP_001394656.1:p.Leu1506Cysfs frameshift NM_001407728.1:c.4516delT NP_001394657.1:p.Leu1506Cysfs frameshift NM_001407729.1:c.4516delT NP_001394658.1:p.Leu1506Cysfs frameshift NM_001407730.1:c.4516delT NP_001394659.1:p.Leu1506Cysfs frameshift NM_001407731.1:c.4516delT NP_001394660.1:p.Leu1506Cysfs frameshift NM_001407732.1:c.4513delT NP_001394661.1:p.Leu1505Cysfs frameshift NM_001407733.1:c.4513delT NP_001394662.1:p.Leu1505Cysfs frameshift NM_001407734.1:c.4513delT NP_001394663.1:p.Leu1505Cysfs frameshift NM_001407735.1:c.4513delT NP_001394664.1:p.Leu1505Cysfs frameshift NM_001407736.1:c.4513delT NP_001394665.1:p.Leu1505Cysfs frameshift NM_001407737.1:c.4513delT NP_001394666.1:p.Leu1505Cysfs frameshift NM_001407738.1:c.4513delT NP_001394667.1:p.Leu1505Cysfs frameshift NM_001407739.1:c.4513delT NP_001394668.1:p.Leu1505Cysfs frameshift NM_001407740.1:c.4513delT NP_001394669.1:p.Leu1505Cysfs frameshift NM_001407741.1:c.4513delT NP_001394670.1:p.Leu1505Cysfs frameshift NM_001407742.1:c.4513delT NP_001394671.1:p.Leu1505Cysfs frameshift NM_001407743.1:c.4513delT NP_001394672.1:p.Leu1505Cysfs frameshift NM_001407744.1:c.4513delT NP_001394673.1:p.Leu1505Cysfs frameshift NM_001407745.1:c.4513delT NP_001394674.1:p.Leu1505Cysfs frameshift NM_001407746.1:c.4513delT NP_001394675.1:p.Leu1505Cysfs frameshift NM_001407747.1:c.4513delT NP_001394676.1:p.Leu1505Cysfs frameshift NM_001407748.1:c.4513delT NP_001394677.1:p.Leu1505Cysfs frameshift NM_001407749.1:c.4513delT NP_001394678.1:p.Leu1505Cysfs frameshift NM_001407750.1:c.4513delT NP_001394679.1:p.Leu1505Cysfs frameshift NM_001407751.1:c.4513delT NP_001394680.1:p.Leu1505Cysfs frameshift NM_001407752.1:c.4513delT NP_001394681.1:p.Leu1505Cysfs frameshift NM_001407838.1:c.4510delT NP_001394767.1:p.Leu1504Cysfs frameshift NM_001407839.1:c.4510delT NP_001394768.1:p.Leu1504Cysfs frameshift NM_001407841.1:c.4510delT NP_001394770.1:p.Leu1504Cysfs frameshift NM_001407842.1:c.4510delT NP_001394771.1:p.Leu1504Cysfs frameshift NM_001407843.1:c.4510delT NP_001394772.1:p.Leu1504Cysfs frameshift NM_001407844.1:c.4510delT NP_001394773.1:p.Leu1504Cysfs frameshift NM_001407845.1:c.4510delT NP_001394774.1:p.Leu1504Cysfs frameshift NM_001407846.1:c.4510delT NP_001394775.1:p.Leu1504Cysfs frameshift NM_001407847.1:c.4510delT NP_001394776.1:p.Leu1504Cysfs frameshift NM_001407848.1:c.4510delT NP_001394777.1:p.Leu1504Cysfs frameshift NM_001407849.1:c.4510delT NP_001394778.1:p.Leu1504Cysfs frameshift NM_001407850.1:c.4510delT NP_001394779.1:p.Leu1504Cysfs frameshift NM_001407851.1:c.4510delT NP_001394780.1:p.Leu1504Cysfs frameshift NM_001407852.1:c.4510delT NP_001394781.1:p.Leu1504Cysfs frameshift NM_001407853.1:c.4510delT NP_001394782.1:p.Leu1504Cysfs frameshift NM_001407854.1:c.4657delT NP_001394783.1:p.Leu1553Cysfs frameshift NM_001407858.1:c.4654delT NP_001394787.1:p.Leu1552Cysfs frameshift NM_001407859.1:c.4654delT NP_001394788.1:p.Leu1552Cysfs frameshift NM_001407860.1:c.4654delT NP_001394789.1:p.Leu1552Cysfs frameshift NM_001407861.1:c.4651delT NP_001394790.1:p.Leu1551Cysfs frameshift NM_001407862.1:c.4456delT NP_001394791.1:p.Leu1486Cysfs frameshift NM_001407863.1:c.4531delT NP_001394792.1:p.Leu1511Cysfs frameshift NM_001407874.1:c.4450delT NP_001394803.1:p.Leu1484Cysfs frameshift NM_001407875.1:c.4450delT NP_001394804.1:p.Leu1484Cysfs frameshift NM_001407879.1:c.4447delT NP_001394808.1:p.Leu1483Cysfs frameshift NM_001407881.1:c.4447delT NP_001394810.1:p.Leu1483Cysfs frameshift NM_001407882.1:c.4447delT NP_001394811.1:p.Leu1483Cysfs frameshift NM_001407884.1:c.4447delT NP_001394813.1:p.Leu1483Cysfs frameshift NM_001407885.1:c.4447delT NP_001394814.1:p.Leu1483Cysfs frameshift NM_001407886.1:c.4447delT NP_001394815.1:p.Leu1483Cysfs frameshift NM_001407887.1:c.4447delT NP_001394816.1:p.Leu1483Cysfs frameshift NM_001407889.1:c.4447delT NP_001394818.1:p.Leu1483Cysfs frameshift NM_001407894.1:c.4444delT NP_001394823.1:p.Leu1482Cysfs frameshift NM_001407895.1:c.4444delT NP_001394824.1:p.Leu1482Cysfs frameshift NM_001407896.1:c.4444delT NP_001394825.1:p.Leu1482Cysfs frameshift NM_001407897.1:c.4444delT NP_001394826.1:p.Leu1482Cysfs frameshift NM_001407898.1:c.4444delT NP_001394827.1:p.Leu1482Cysfs frameshift NM_001407899.1:c.4444delT NP_001394828.1:p.Leu1482Cysfs frameshift NM_001407900.1:c.4444delT NP_001394829.1:p.Leu1482Cysfs frameshift NM_001407902.1:c.4444delT NP_001394831.1:p.Leu1482Cysfs frameshift NM_001407904.1:c.4444delT NP_001394833.1:p.Leu1482Cysfs frameshift NM_001407906.1:c.4444delT NP_001394835.1:p.Leu1482Cysfs frameshift NM_001407907.1:c.4444delT NP_001394836.1:p.Leu1482Cysfs frameshift NM_001407908.1:c.4444delT NP_001394837.1:p.Leu1482Cysfs frameshift NM_001407909.1:c.4444delT NP_001394838.1:p.Leu1482Cysfs frameshift NM_001407910.1:c.4444delT NP_001394839.1:p.Leu1482Cysfs frameshift NM_001407915.1:c.4441delT NP_001394844.1:p.Leu1481Cysfs frameshift NM_001407916.1:c.4441delT NP_001394845.1:p.Leu1481Cysfs frameshift NM_001407917.1:c.4441delT NP_001394846.1:p.Leu1481Cysfs frameshift NM_001407918.1:c.4441delT NP_001394847.1:p.Leu1481Cysfs frameshift NM_001407919.1:c.4534delT NP_001394848.1:p.Leu1512Cysfs frameshift NM_001407920.1:c.4393delT NP_001394849.1:p.Leu1465Cysfs frameshift NM_001407921.1:c.4393delT NP_001394850.1:p.Leu1465Cysfs frameshift NM_001407922.1:c.4393delT NP_001394851.1:p.Leu1465Cysfs frameshift NM_001407923.1:c.4393delT NP_001394852.1:p.Leu1465Cysfs frameshift NM_001407924.1:c.4393delT NP_001394853.1:p.Leu1465Cysfs frameshift NM_001407925.1:c.4393delT NP_001394854.1:p.Leu1465Cysfs frameshift NM_001407926.1:c.4393delT NP_001394855.1:p.Leu1465Cysfs frameshift NM_001407927.1:c.4390delT NP_001394856.1:p.Leu1464Cysfs frameshift NM_001407928.1:c.4390delT NP_001394857.1:p.Leu1464Cysfs frameshift NM_001407929.1:c.4390delT NP_001394858.1:p.Leu1464Cysfs frameshift NM_001407930.1:c.4390delT NP_001394859.1:p.Leu1464Cysfs frameshift NM_001407931.1:c.4390delT NP_001394860.1:p.Leu1464Cysfs frameshift NM_001407932.1:c.4390delT NP_001394861.1:p.Leu1464Cysfs frameshift NM_001407933.1:c.4390delT NP_001394862.1:p.Leu1464Cysfs frameshift NM_001407934.1:c.4387delT NP_001394863.1:p.Leu1463Cysfs frameshift NM_001407935.1:c.4387delT NP_001394864.1:p.Leu1463Cysfs frameshift NM_001407936.1:c.4387delT NP_001394865.1:p.Leu1463Cysfs frameshift NM_001407937.1:c.4534delT NP_001394866.1:p.Leu1512Cysfs frameshift NM_001407938.1:c.4534delT NP_001394867.1:p.Leu1512Cysfs frameshift NM_001407939.1:c.4531delT NP_001394868.1:p.Leu1511Cysfs frameshift NM_001407940.1:c.4531delT NP_001394869.1:p.Leu1511Cysfs frameshift NM_001407941.1:c.4528delT NP_001394870.1:p.Leu1510Cysfs frameshift NM_001407942.1:c.4516delT NP_001394871.1:p.Leu1506Cysfs frameshift NM_001407943.1:c.4513delT NP_001394872.1:p.Leu1505Cysfs frameshift NM_001407944.1:c.4513delT NP_001394873.1:p.Leu1505Cysfs frameshift NM_001407945.1:c.4513delT NP_001394874.1:p.Leu1505Cysfs frameshift NM_001407946.1:c.4324delT NP_001394875.1:p.Leu1442Cysfs frameshift NM_001407947.1:c.4324delT NP_001394876.1:p.Leu1442Cysfs frameshift NM_001407948.1:c.4324delT NP_001394877.1:p.Leu1442Cysfs frameshift NM_001407949.1:c.4324delT NP_001394878.1:p.Leu1442Cysfs frameshift NM_001407950.1:c.4321delT NP_001394879.1:p.Leu1441Cysfs frameshift NM_001407951.1:c.4321delT NP_001394880.1:p.Leu1441Cysfs frameshift NM_001407952.1:c.4321delT NP_001394881.1:p.Leu1441Cysfs frameshift NM_001407953.1:c.4321delT NP_001394882.1:p.Leu1441Cysfs frameshift NM_001407954.1:c.4321delT NP_001394883.1:p.Leu1441Cysfs frameshift NM_001407955.1:c.4321delT NP_001394884.1:p.Leu1441Cysfs frameshift NM_001407956.1:c.4318delT NP_001394885.1:p.Leu1440Cysfs frameshift NM_001407957.1:c.4318delT NP_001394886.1:p.Leu1440Cysfs frameshift NM_001407958.1:c.4318delT NP_001394887.1:p.Leu1440Cysfs frameshift NM_001407959.1:c.4276delT NP_001394888.1:p.Leu1426Cysfs frameshift NM_001407960.1:c.4273delT NP_001394889.1:p.Leu1425Cysfs frameshift NM_001407962.1:c.4273delT NP_001394891.1:p.Leu1425Cysfs frameshift NM_001407963.1:c.4270delT NP_001394892.1:p.Leu1424Cysfs frameshift NM_001407965.1:c.4150delT NP_001394894.1:p.Leu1384Cysfs frameshift NM_001407966.1:c.3769delT NP_001394895.1:p.Leu1257Cysfs frameshift NM_001407967.1:c.3766delT NP_001394896.1:p.Leu1256Cysfs frameshift NM_001407968.1:c.2053delT NP_001394897.1:p.Leu685Cysfs frameshift NM_001407969.1:c.2050delT NP_001394898.1:p.Leu684Cysfs frameshift NM_001407970.1:c.1414delT NP_001394899.1:p.Leu472Cysfs frameshift NM_001407971.1:c.1414delT NP_001394900.1:p.Leu472Cysfs frameshift NM_001407972.1:c.1411delT NP_001394901.1:p.Leu471Cysfs frameshift NM_001407973.1:c.1348delT NP_001394902.1:p.Leu450Cysfs frameshift NM_001407974.1:c.1348delT NP_001394903.1:p.Leu450Cysfs frameshift NM_001407975.1:c.1348delT NP_001394904.1:p.Leu450Cysfs frameshift NM_001407976.1:c.1348delT NP_001394905.1:p.Leu450Cysfs frameshift NM_001407977.1:c.1348delT NP_001394906.1:p.Leu450Cysfs frameshift NM_001407978.1:c.1348delT NP_001394907.1:p.Leu450Cysfs frameshift NM_001407979.1:c.1345delT NP_001394908.1:p.Leu449Cysfs frameshift NM_001407980.1:c.1345delT NP_001394909.1:p.Leu449Cysfs frameshift NM_001407981.1:c.1345delT NP_001394910.1:p.Leu449Cysfs frameshift NM_001407982.1:c.1345delT NP_001394911.1:p.Leu449Cysfs frameshift NM_001407983.1:c.1345delT NP_001394912.1:p.Leu449Cysfs frameshift NM_001407984.1:c.1345delT NP_001394913.1:p.Leu449Cysfs frameshift NM_001407985.1:c.1345delT NP_001394914.1:p.Leu449Cysfs frameshift NM_001407986.1:c.1345delT NP_001394915.1:p.Leu449Cysfs frameshift NM_001407990.1:c.1345delT NP_001394919.1:p.Leu449Cysfs frameshift NM_001407991.1:c.1345delT NP_001394920.1:p.Leu449Cysfs frameshift NM_001407992.1:c.1345delT NP_001394921.1:p.Leu449Cysfs frameshift NM_001407993.1:c.1345delT NP_001394922.1:p.Leu449Cysfs frameshift NM_001408392.1:c.1342delT NP_001395321.1:p.Leu448Cysfs frameshift NM_001408396.1:c.1342delT NP_001395325.1:p.Leu448Cysfs frameshift NM_001408397.1:c.1342delT NP_001395326.1:p.Leu448Cysfs frameshift NM_001408398.1:c.1342delT NP_001395327.1:p.Leu448Cysfs frameshift NM_001408399.1:c.1342delT NP_001395328.1:p.Leu448Cysfs frameshift NM_001408400.1:c.1342delT NP_001395329.1:p.Leu448Cysfs frameshift NM_001408401.1:c.1342delT NP_001395330.1:p.Leu448Cysfs frameshift NM_001408402.1:c.1342delT NP_001395331.1:p.Leu448Cysfs frameshift NM_001408403.1:c.1342delT NP_001395332.1:p.Leu448Cysfs frameshift NM_001408404.1:c.1342delT NP_001395333.1:p.Leu448Cysfs frameshift NM_001408406.1:c.1339delT NP_001395335.1:p.Leu447Cysfs frameshift NM_001408407.1:c.1339delT NP_001395336.1:p.Leu447Cysfs frameshift NM_001408408.1:c.1339delT NP_001395337.1:p.Leu447Cysfs frameshift NM_001408409.1:c.1336delT NP_001395338.1:p.Leu446Cysfs frameshift NM_001408410.1:c.1273delT NP_001395339.1:p.Leu425Cysfs frameshift NM_001408411.1:c.1270delT NP_001395340.1:p.Leu424Cysfs frameshift NM_001408412.1:c.1267delT NP_001395341.1:p.Leu423Cysfs frameshift NM_001408413.1:c.1267delT NP_001395342.1:p.Leu423Cysfs frameshift NM_001408414.1:c.1267delT NP_001395343.1:p.Leu423Cysfs frameshift NM_001408415.1:c.1267delT NP_001395344.1:p.Leu423Cysfs frameshift NM_001408416.1:c.1267delT NP_001395345.1:p.Leu423Cysfs frameshift NM_001408418.1:c.1231delT NP_001395347.1:p.Leu411Cysfs frameshift NM_001408419.1:c.1231delT NP_001395348.1:p.Leu411Cysfs frameshift NM_001408420.1:c.1231delT NP_001395349.1:p.Leu411Cysfs frameshift NM_001408421.1:c.1228delT NP_001395350.1:p.Leu410Cysfs frameshift NM_001408422.1:c.1228delT NP_001395351.1:p.Leu410Cysfs frameshift NM_001408423.1:c.1228delT NP_001395352.1:p.Leu410Cysfs frameshift NM_001408424.1:c.1228delT NP_001395353.1:p.Leu410Cysfs frameshift NM_001408425.1:c.1225delT NP_001395354.1:p.Leu409Cysfs frameshift NM_001408426.1:c.1225delT NP_001395355.1:p.Leu409Cysfs frameshift NM_001408427.1:c.1225delT NP_001395356.1:p.Leu409Cysfs frameshift NM_001408428.1:c.1225delT NP_001395357.1:p.Leu409Cysfs frameshift NM_001408429.1:c.1225delT NP_001395358.1:p.Leu409Cysfs frameshift NM_001408430.1:c.1225delT NP_001395359.1:p.Leu409Cysfs frameshift NM_001408431.1:c.1225delT NP_001395360.1:p.Leu409Cysfs frameshift NM_001408432.1:c.1222delT NP_001395361.1:p.Leu408Cysfs frameshift NM_001408433.1:c.1222delT NP_001395362.1:p.Leu408Cysfs frameshift NM_001408434.1:c.1222delT NP_001395363.1:p.Leu408Cysfs frameshift NM_001408435.1:c.1222delT NP_001395364.1:p.Leu408Cysfs frameshift NM_001408436.1:c.1222delT NP_001395365.1:p.Leu408Cysfs frameshift NM_001408437.1:c.1222delT NP_001395366.1:p.Leu408Cysfs frameshift NM_001408438.1:c.1222delT NP_001395367.1:p.Leu408Cysfs frameshift NM_001408439.1:c.1222delT NP_001395368.1:p.Leu408Cysfs frameshift NM_001408440.1:c.1222delT NP_001395369.1:p.Leu408Cysfs frameshift NM_001408441.1:c.1222delT NP_001395370.1:p.Leu408Cysfs frameshift NM_001408442.1:c.1222delT NP_001395371.1:p.Leu408Cysfs frameshift NM_001408443.1:c.1222delT NP_001395372.1:p.Leu408Cysfs frameshift NM_001408444.1:c.1222delT NP_001395373.1:p.Leu408Cysfs frameshift NM_001408445.1:c.1219delT NP_001395374.1:p.Leu407Cysfs frameshift NM_001408446.1:c.1219delT NP_001395375.1:p.Leu407Cysfs frameshift NM_001408447.1:c.1219delT NP_001395376.1:p.Leu407Cysfs frameshift NM_001408448.1:c.1219delT NP_001395377.1:p.Leu407Cysfs frameshift NM_001408450.1:c.1219delT NP_001395379.1:p.Leu407Cysfs frameshift NM_001408451.1:c.1213delT NP_001395380.1:p.Leu405Cysfs frameshift NM_001408452.1:c.1207delT NP_001395381.1:p.Leu403Cysfs frameshift NM_001408453.1:c.1207delT NP_001395382.1:p.Leu403Cysfs frameshift NM_001408454.1:c.1207delT NP_001395383.1:p.Leu403Cysfs frameshift NM_001408455.1:c.1207delT NP_001395384.1:p.Leu403Cysfs frameshift NM_001408456.1:c.1207delT NP_001395385.1:p.Leu403Cysfs frameshift NM_001408457.1:c.1207delT NP_001395386.1:p.Leu403Cysfs frameshift NM_001408458.1:c.1204delT NP_001395387.1:p.Leu402Cysfs frameshift NM_001408459.1:c.1204delT NP_001395388.1:p.Leu402Cysfs frameshift NM_001408460.1:c.1204delT NP_001395389.1:p.Leu402Cysfs frameshift NM_001408461.1:c.1204delT NP_001395390.1:p.Leu402Cysfs frameshift NM_001408462.1:c.1204delT NP_001395391.1:p.Leu402Cysfs frameshift NM_001408463.1:c.1204delT NP_001395392.1:p.Leu402Cysfs frameshift NM_001408464.1:c.1204delT NP_001395393.1:p.Leu402Cysfs frameshift NM_001408465.1:c.1204delT NP_001395394.1:p.Leu402Cysfs frameshift NM_001408466.1:c.1204delT NP_001395395.1:p.Leu402Cysfs frameshift NM_001408467.1:c.1204delT NP_001395396.1:p.Leu402Cysfs frameshift NM_001408468.1:c.1201delT NP_001395397.1:p.Leu401Cysfs frameshift NM_001408469.1:c.1201delT NP_001395398.1:p.Leu401Cysfs frameshift NM_001408470.1:c.1201delT NP_001395399.1:p.Leu401Cysfs frameshift NM_001408472.1:c.1345delT NP_001395401.1:p.Leu449Cysfs frameshift NM_001408473.1:c.1342delT NP_001395402.1:p.Leu448Cysfs frameshift NM_001408474.1:c.1147delT NP_001395403.1:p.Leu383Cysfs frameshift NM_001408475.1:c.1144delT NP_001395404.1:p.Leu382Cysfs frameshift NM_001408476.1:c.1144delT NP_001395405.1:p.Leu382Cysfs frameshift NM_001408478.1:c.1138delT NP_001395407.1:p.Leu380Cysfs frameshift NM_001408479.1:c.1138delT NP_001395408.1:p.Leu380Cysfs frameshift NM_001408480.1:c.1138delT NP_001395409.1:p.Leu380Cysfs frameshift NM_001408481.1:c.1135delT NP_001395410.1:p.Leu379Cysfs frameshift NM_001408482.1:c.1135delT NP_001395411.1:p.Leu379Cysfs frameshift NM_001408483.1:c.1135delT NP_001395412.1:p.Leu379Cysfs frameshift NM_001408484.1:c.1135delT NP_001395413.1:p.Leu379Cysfs frameshift NM_001408485.1:c.1135delT NP_001395414.1:p.Leu379Cysfs frameshift NM_001408489.1:c.1135delT NP_001395418.1:p.Leu379Cysfs frameshift NM_001408490.1:c.1135delT NP_001395419.1:p.Leu379Cysfs frameshift NM_001408491.1:c.1135delT NP_001395420.1:p.Leu379Cysfs frameshift NM_001408492.1:c.1132delT NP_001395421.1:p.Leu378Cysfs frameshift NM_001408493.1:c.1132delT NP_001395422.1:p.Leu378Cysfs frameshift NM_001408494.1:c.1108delT NP_001395423.1:p.Leu370Cysfs frameshift NM_001408495.1:c.1102delT NP_001395424.1:p.Leu368Cysfs frameshift NM_001408496.1:c.1084delT NP_001395425.1:p.Leu362Cysfs frameshift NM_001408497.1:c.1084delT NP_001395426.1:p.Leu362Cysfs frameshift NM_001408498.1:c.1084delT NP_001395427.1:p.Leu362Cysfs frameshift NM_001408499.1:c.1084delT NP_001395428.1:p.Leu362Cysfs frameshift NM_001408500.1:c.1084delT NP_001395429.1:p.Leu362Cysfs frameshift NM_001408501.1:c.1084delT NP_001395430.1:p.Leu362Cysfs frameshift NM_001408502.1:c.1081delT NP_001395431.1:p.Leu361Cysfs frameshift NM_001408503.1:c.1081delT NP_001395432.1:p.Leu361Cysfs frameshift NM_001408504.1:c.1081delT NP_001395433.1:p.Leu361Cysfs frameshift NM_001408505.1:c.1078delT NP_001395434.1:p.Leu360Cysfs frameshift NM_001408506.1:c.1021delT NP_001395435.1:p.Leu341Cysfs frameshift NM_001408507.1:c.1018delT NP_001395436.1:p.Leu340Cysfs frameshift NM_001408508.1:c.1009delT NP_001395437.1:p.Leu337Cysfs frameshift NM_001408509.1:c.1006delT NP_001395438.1:p.Leu336Cysfs frameshift NM_001408510.1:c.967delT NP_001395439.1:p.Leu323Cysfs frameshift NM_001408511.1:c.964delT NP_001395440.1:p.Leu322Cysfs frameshift NM_001408512.1:c.844delT NP_001395441.1:p.Leu282Cysfs frameshift NM_007294.3:c.4657delT NP_009225.1:p.Leu1553Cysfs frameshift NM_007294.3:c.4658delT NM_007297.4:c.4517del NP_009228.2:p.Leu1506fs frameshift NM_007298.4:c.1345delT NP_009229.2:p.Leu449Cysfs frameshift NM_007299.4:c.1346del NP_009230.2:p.Leu449fs frameshift NM_007300.4:c.4721del NP_009231.2:p.Leu1574fs frameshift NM_007304.2:c.1345delT NP_009235.2:p.Leu449Cysfs frameshift NR_027676.2:n.4835del non-coding transcript variant NC_000017.11:g.43074349del NC_000017.10:g.41226366del NG_005905.2:g.143636del LRG_292:g.143636del LRG_292t1:c.4658del - Protein change
- L1506fs, L1553fs, L1574fs, L449fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074347:AA:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13016 | 14818 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Feb 11, 2023 | RCV001041113.14 | |
Pathogenic (1) |
criteria provided, single submitter
|
Dec 15, 2020 | RCV002327275.9 | |
Likely pathogenic (1) |
criteria provided, single submitter
|
- | RCV003339439.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Likely pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV004048312.1
First in ClinVar: Oct 28, 2023 Last updated: Oct 28, 2023 |
Comment:
The frame shift c.4721del(p.Leu1574CysfsTer6) variant in BRCA1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. … (more)
The frame shift c.4721del(p.Leu1574CysfsTer6) variant in BRCA1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Leu1574CysfsTer6 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant causes a frameshift starting with codon Leucine 1574, changes this amino acid to Cysteine residue, and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Leu1574CysfsTer6. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. (less)
Clinical Features:
Ovarian neoplasm (present) , Ovarian carcinoma (present)
|
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Pathogenic
(Feb 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV001204709.5
First in ClinVar: Apr 15, 2020 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Leu1553Cysfs*6) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Leu1553Cysfs*6) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 839374). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jun 30, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004848689.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
The p.Leu1553CysfsX6 in BRCA1 has been reported in one breast cancer patient (Ashour 2019 PMID 31372034) and was absent in large population databases. ACMG Criteria … (more)
The p.Leu1553CysfsX6 in BRCA1 has been reported in one breast cancer patient (Ashour 2019 PMID 31372034) and was absent in large population databases. ACMG Criteria applied: PVS1, PM2_supporting, PS4_supporting (less)
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Pathogenic
(Dec 15, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002633714.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.4658delT pathogenic mutation, located in coding exon 13 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 4658, causing … (more)
The c.4658delT pathogenic mutation, located in coding exon 13 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 4658, causing a translational frameshift with a predicted alternate stop codon (p.L1553Cfs*6). This mutation has been reported in an individual diagnosed with epithelial ovarian cancer (Ashour M et al. Cancer Manag Res, 2019 Jul;11:6275-6284). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome. | Ashour M | Cancer management and research | 2019 | PMID: 31372034 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Text-mined citations for rs2052588740 ...
HelpRecord last updated Sep 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.